Σάββατο 29 Δεκεμβρίου 2018

Celiac Disease in Brazilian First-Degree Relatives: The Odds are Five Times Greater for HLA DQ2 Homozygous

First degree relatives (FDR) of 47 outpatients with celiac disease (CD) answered a questionnaire about symptoms related to CD and were investigated for human leukocyte antigen (HLA)-DQ2, DQB1*02 homozygosis and DQ8 alleles. Genetically susceptible individuals were tested for anti-transglutaminase antibody IgA. Seropositives FDR underwent small bowel biopsies. From 114 FDR, 74.5% (n = 85) were positive for DQ2, DQ8, or both haplotypes. Homozygosity of DQB1*02 was found in 11.4% (n = 13) individuals. Three FDR were previously diagnosed with CD. Among the genetically susceptible individuals, 67.1% had at least one symptom related to CD. Seropositivity was 8/82 (9.8%), and 4/8 biopsies were compatible with CD. Therefore, the total number of FDR with CD was 6,1% (7/114), 95% CI (1.71, 10.49). Three out of seven FDR with CD were HLA DQB1*02 homozygous. The odds of being CD is five times, 95% CI (0.99, 26.23), greater for HLA DQ B1*02 homozygous in FDR. Address correspondence and reprint requests to V.L. Sdepanian, Rua Estado de Israel, 577 apto 112, CEP 04022-001- São Paulo- São Paulo – Brazil (e-mail: sdepanian@uol.com.br). Received 19 December, 2018 Accepted 19 December, 2018 There are no financial conflicts of interest to disclosure. Lopes, Leticia Helena Caldas MD, PhD: Substantial contributions to the conception and design of the work, collecting data, analysis and interpretation of data for the work; drafting the work; final approval of the version to be published; and accountable for all aspects of the work. Muniz, Janaína Guilhem Master degree: Substantial contributions to the conception and design of the work, analysis and interpretation of data for the work; Oliveira, Ricardo Palmero Master degree: Substantial contributions to the conception and design of the work, analysis and interpretation of data for the work; Sdepanian, Vera Lucia MD, PhD Substantial contributions to the conception and design of the work, analysis and interpretation of data for the work; drafting the work; final approval of the version to be published; and accountable for all aspects of the work. © 2018 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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